BRANCHIO-OTO (BO) SYNDROME AND OCULO-AURICULO-VERTEBRAL PHENOTYPE - OVERLAPPING CLINICAL FINDINGS IN A CHILD FROM A BO FAMILY

Authors
SENSI A COCCHI G MARTINI A GARANI G TREVISI P CALZOLARI E
Citation
A. Sensi et al., BRANCHIO-OTO (BO) SYNDROME AND OCULO-AURICULO-VERTEBRAL PHENOTYPE - OVERLAPPING CLINICAL FINDINGS IN A CHILD FROM A BO FAMILY, Clinical genetics, 49(6), 1996, pp. 300-302
Citations number
12
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
49
Issue
6
Year of publication
1996
Pages
300 - 302
Database
ISI
SICI code
0009-9163(1996)49:6<300:B(SAOP>2.0.ZU;2-Z
Abstract
A three-generation BO family is presented: the proband showed, in addi tion to branchio-oto malformations, a severe condition with growth ret ardation, mandibular hypoplasia and vertebral anomalies resembling the oculo-auriculo-vertebral (OAV) phenotype, This family study supports the hypothesis of Rollnick and Kaye that the OAV spectrum may represen t, in some cases, an extreme component of the BOR syndrome. The findin g has relevant implications for genetic counselling regarding both con ditions.